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rs201307156

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201307156(C;T)
Make rs201307156(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position183243203
GeneLAMC2
is asnp
is mentioned by
dbSNPrs201307156
dbSNP (classic)rs201307156
ClinGenrs201307156
ebirs201307156
HLIrs201307156
Exacrs201307156
Gnomadrs201307156
Varsomers201307156
LitVarrs201307156
Maprs201307156
PheGenIrs201307156
Biobankrs201307156
1000 genomesrs201307156
hgdprs201307156
ensemblrs201307156
geneviewrs201307156
scholarrs201307156
googlers201307156
pharmgkbrs201307156
gwascentralrs201307156
openSNPrs201307156
23andMers201307156
SNPshotrs201307156
SNPdbers201307156
MSV3drs201307156
GWAS Ctlgrs201307156
Max Magnitude0
ClinVar
Risk rs201307156(T;T)
Alt rs201307156(T;T)
Reference Rs201307156(C;C)
Significance Probable-Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMC2
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 0
HGVS NC_000001.10:g.183212338C>T
CLNSRC
CLNACC RCV000411632.1,